HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

A novel family with an unusual early-onset generalized dystonia.

Abstract
We report on an Italian family in which three brothers and their maternal grandfather had a generalized early-onset dystonia with mild parkinsonian signs. Genetic testing excluded the rapid-onset dystonia-parkinsonism locus (DYT12; OMIM*128235), autosomal recessive Parkin locus (PARK2; OMIM *602544), and DYT1 dystonia. Three affected siblings were found to share an identical haplotype at the X-linked dystonia-parkinsonism locus (XDP; Lubag; OMIM*314250). This haplotype differed from the haplotype observed in Filipino patients, ruling out the hypothesis of a common underlying mutation. In addition, direct sequencing analysis of the putative disease causing changes observed in Filipino patients were not found in the Italian patients. The condition we describe could be a newly recognized dystonia syndrome with parkinsonism.
AuthorsGiovanni Fabbrini, Francesco Brancati, Laura Vacca, Enza Maria Valente, Andrea Nemeth, Angela Meesaq, Nuala Sykes, Bruno Dallapiccola, Alfredo Berardelli
JournalMovement disorders : official journal of the Movement Disorder Society (Mov Disord) Vol. 20 Issue 1 Pg. 81-6 (Jan 2005) ISSN: 0885-3185 [Print] United States
PMID15390042 (Publication Type: Comparative Study, Journal Article)
Copyright(c) 2004 Movement Disorder Society.
Topics
  • Adult
  • Aged
  • Aged, 80 and over
  • Dystonia (complications, genetics)
  • Family Health
  • Female
  • Haplotypes
  • Humans
  • Italy
  • Male
  • Parkinson Disease (complications, genetics)
  • Sequence Analysis, DNA (methods)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: